학술논문
'학술논문'
에서 검색결과 141건 | 목록
1~10
Academic Journal
Evans, William; Patterson, Marc; Platt, Frances; Guldberg, Christina; Mathieson, Toni; Pacey, Jessica; the Core Working Group for the Delphi Study; Berry-Kravis, Elizabeth; Farhat, Nicole; Gascon, Jordi; Geberhiwot, Tarek; Gissen, Paul; Giugliani, Roberto; Hastings, Caroline; Héron, Bénédicte; Imrie, Jackie; Jones, Simon; Lachmann, Robin; Mengel, Eugen; Pineda, Mercedes
Periodical
Cascajo-Almenara, Marivi V.; Juliá-Palacios, Natalia.; Urreizti, Roser; Sánchez-Cuesta, Ana; Fernández-Ayala, Daniel M.; García-Díaz, Elena; Oliva, Clara; O´Callaghan, Maria del Mar; Paredes-Fuentes, Abraham J.; Moreno-Lozano, Pedro J.; Muchart, Jordi; Nascimento, Andres; Ortez, Carlos I.; Natera-de Benito, Daniel; Pineda, Mercedes; Rivera, Noelia; Fortuna, Tyler R.; Rajan, Deepa S.; Navas, Plácido; Salviati, Leonardo; Palau, Francesc; Yubero, Delia; García-Cazorla, Angels; Pandey, Udai Bhan; Santos-Ocaña, Carlos; Artuch, Rafael
European Journal of Human Genetics: EJHG; 20240101, Issue: Preprints p1-9, 9p
Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatment
Academic Journal
Cascajo-Almenara, Marivi V.; Juliá-Palacios, Natalia.; Urreizti, Roser; Sánchez-Cuesta, Ana; Fernández-Ayala, Daniel M.; García-Díaz, Elena; Oliva, Clara; O´Callaghan, Maria del Mar; Paredes-Fuentes, Abraham J.; Moreno-Lozano, Pedro J.; Muchart, Jordi; Nascimento, Andres; Ortez, Carlos I.; Natera-de Benito, Daniel; Pineda, Mercedes; Rivera, Noelia; Fortuna, Tyler R.; Rajan, Deepa S.; Navas, Plácido; Salviati, Leonardo; Palau, Francesc; Yubero, Delia; García-Cazorla, Angels; Pandey, Udai Bhan; Santos-Ocaña, Carlos; Artuch, Rafael
European Journal of Human Genetics. 32(4):426-434
Academic Journal
Patterson, Marc C.; Mengel, Eugen; Vanier, Marie T.; Moneuse, Patrick; Rosenberg, Daniel; Pineda, Mercedes
Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatment
Academic Journal
Cascajo-Almenara, Marivi V.; Julia-Palacios, Natalia.; Urreizti, Roser; Sanchez-Cuesta, Ana; Fernandez-Ayala, Daniel M.; Garcia-Diaz, Elena; Oliva, Clara; O'Callaghan, Maria del Mar; Paredes-Fuentes, Abraham J.; Moreno-Lozano, Pedro J.; Muchart, Jordi; Nascimento, Andres; Ortez, Carlos I.; Natera-de Benito, Daniel; Pineda, Mercedes; Rivera, Noelia; Fortuna, Tyler R.; Rajan, Deepa S.; Navas, Placido; Salviati, Leonardo; Palau, Francesc; Yubero, Delia; Garcia-Cazorla, Angels; Pandey, Udai Bhan; Santos-Ocana, Carlos; Artuch, Rafael
Academic Journal
Frullanti, Elisa; Papa, Filomena T.; Grillo, Elisa; Clarke, Angus; Ben-Zeev, Bruria; Pineda, Mercedes; Bahi-Buisson, Nadia; Bienvenu, Thierry; Armstrong, Judith; Roche Martinez, Ana; Mari, Francesca; Nissenkorn, Andreea; Lo Rizzo, Caterina; Veneselli, Edvige; Russo, Silvia; Vignoli, Aglaia; Pini, Giorgio; Djuric, Milena; Bisgaard, Anne-Marie; Ravn, Kirstine
Academic Journal
Pineda, Mercedes; Juríčková, Katarína; Karimzadeh, Parvaneh; Kolnikova, Miriam; Malinova, Vera; Insua, Jose Luis; Velten, Christian; Kolb, Stefan A.
Academic Journal
Montaño, Adriana M; Lock-Hock, Ngu; Steiner, Robert D; Graham, Brett H; Szlago, Marina; Greenstein, Robert; Pineda, Mercedes; Gonzalez-Meneses, Antonio; Çoker, Mahmut; Bartholomew, Dennis; Sands, Mark S; Wang, Raymond; Giugliani, Roberto; Macaya, Alfons; Pastores, Gregory; Ketko, Anastasia K; Ezgü, Fatih; Tanaka, Akemi; Arash, Laila; Beck, Michael; Falk, Rena E; Bhattacharya, Kaustuv; Franco, José; White, Klane K; Mitchell, Grant A; Cimbalistiene, Loreta; Holtz, Max; Sly, William S
Journal of Medical Genetics. 53(6)
Academic Journal
Montero, Raquel; Yubero, Delia; Villarroya, Joan; Henares, Desiree; Jou, Cristina; Rodríguez, Maria Angeles; Ramos, Federico; Nascimento, Andrés; Ortez, Carlos Ignacio; Campistol, Jaume; Perez-Dueñas, Belen; O'Callaghan, Mar; Pineda, Mercedes; Garcia-Cazorla, Angeles; Oferil, Jaume Colomer; Montoya, Julio; Ruiz-Pesini, Eduardo; Emperador, Sonia; Meznaric, Marija; Campderros, Laura
Academic Journal
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[AR] Pineda, Mercedes
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